Progressive myoclonic epilepsy with dystonia

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Progressive myoclonic epilepsy with dystonia

Synonyms: PMED | Progressive myoclonus epilepsy with dystonia

Progressive myoclonic epilepsy with dystonia is a rare genetic epilepsy syndrome characterized by neonatal or early infantile onset of severe progressive typically frequent and prolonged myoclonic seizures that are refractory to treatment associated with localized and/or generalized paroxysmal dystonia (which later becomes persistent). Other features include severe hypotonia hemiplegia psychomotor regression (or lack of psychomotor development) and progressive cerebral and cerebellar atrophy with affected individuals becoming progressively non-reactive to environmental stimuli.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version April 2024

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